Vitamin B12-unresponsive methylmalonic acidemia type mut-

General Information (adopted from Orphanet):

Synonyms, Signs: Partial deficiency of methylmalonyl-CoA mutase
METHYLMALONIC ACIDURIA, mut TYPE METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED
Vitamin B12-unresponsive methylmalonic aciduria type mut-
METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED
METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY
Number of Symptoms 50
OrphanetNr: 79312
OMIM Id: 251000
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Vitamin B12-responsive methylmalonic acidemia
 -Rare genetic disease
 -Rare renal disease
Vitamin B12-unresponsive methylmalonic acidemia
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
2
 (HPO:0002039) Anorexia Very frequent [Orphanet] 62 / 7739
3
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
4
 (HPO:0002170) Intracranial hemorrhage Occasional [Orphanet] 40 / 7739
5
 (HPO:0011695) Cerebellar hemorrhage 6 / 7739
6
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
7
 (HPO:0005979) Metabolic ketoacidosis 4 / 7739
8
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
9
 (HPO:0001508) Failure to thrive 454 / 7739
10
 (HPO:0002154) Hyperglycinemia 12 / 7739
11
 (HPO:0012120) Methylmalonic aciduria 20 / 7739
12
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
13
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
14
 (HPO:0001944) Dehydration Very frequent [Orphanet] 59 / 7739
15
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
16
 (HPO:0001874) Abnormality of neutrophils Occasional [Orphanet] 47 / 7739
17
 (HPO:0001882) Leukopenia 51 / 7739
18
 (HPO:0001987) Hyperammonemia Very frequent [Orphanet] 50 / 7739
19
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
20
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
21
 (HPO:0010547) Muscle flaccidity 466 / 7739
22
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0001332) Dystonia Frequent [Orphanet] 197 / 7739
25
 (HPO:0001263) Global developmental delay 853 / 7739
26
 (HPO:0001254) Lethargy 104 / 7739
27
 (HPO:0001259) Coma 65 / 7739
28
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
29
 (HPO:0004372) Reduced consciousness/confusion Very frequent [Orphanet] 73 / 7739
30
 (HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
31
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
32
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
33
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
34
 (HPO:0001733) Pancreatitis Occasional [Orphanet] 46 / 7739
35
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
36
 (HPO:0001970) Tubulointerstitial nephritis 27 / 7739
37
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
38
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
39
 (HPO:0000124) Renal tubular dysfunction Very frequent [Orphanet] 46 / 7739
40
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
41
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
42
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
43
 (OMIM) Delay in myelination 3 / 7739
44
 (OMIM) Ischemic stroke in the basal ganglia (rare) 4 / 7739
45
 (OMIM) Low plasma free and total carnitine 3 / 7739
46
 (OMIM) Methylmalonyl-CoA mutase deficiency 3 / 7739
47
 (OMIM) Neonatal or infantile metabolic ketoacidosis 3 / 7739
48
 (OMIM) Normal serum cobalamin 7 / 7739
49
 (OMIM) Recurrent episodes of vomiting 3 / 7739
50
 (OMIM) Severe involvement of globus pallidus 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form ...
Diagnosis OMIM Wilkemeyer et al. (1991) showed that the mut and cbl forms of MMA can be differentiated not only by somatic cell complementation but also by DNA-mediated gene transfer of a methylmalonyl CoA mutase cDNA clone. Transfer of the ...
Clinical Description OMIM The clinical spectrum of methylmalonic aciduria is wide, ranging from a benign condition (Ledley et al., 1984) to fatal neonatal disease (Matsui et al., 1983).

Oberholzer et al. (1967) reported an inborn error of metabolism characterized ...
Molecular genetics OMIM In a patient with MMA mut(0), defined as having no residual enzyme activity, Jansen and Ledley (1990) identified compound heterozygosity for 2 mutations in the MUT gene (609058.0001 and 609058.0002).

In a patient with MMA mut(-), ...